| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55059519A>G | CA10654837 | PCSK9 | c.1537A>G (p.Asn513Asp) c.1894A>G (p.Asn632Asp) c.1162A>G (p.Asn388Asp) c.277A>G (p.Asn93Asp) n.2227+872A>G n.1144A>G c.658A>G (p.Asn220Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55059519A= | CA1167984892 | PCSK9 | c.1537A= (p.Asn513=) c.1894A= (p.Asn632=) c.1162A= (p.Asn388=) c.277A= (p.Asn93=) n.2227+872A= n.1144A= c.658A= (p.Asn220=) | dbSNP |